beta-thalassemia/edema

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Heterogeneity of hemoglobin gamma chains in normal newborns and in cases of alpha and beta thalassemia.

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The ratio of Ggamma to Agamma was studied in 13 normal healthy newborns and in eight neonates with hydrops fetalis due to homozygous alpha-thalassemia. The findings in the normal healthy newborns agreed with those of earlier reports. In homozygous alpha-thalassemia the Ggamma and Agamma ratio

BILATERAL CHOROIDAL NEOVASCULARIZATION IN A PATIENT WITH BETA-THALASSEMIA MAJOR AND ITS MANAGEMENT.

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OBJECTIVE To describe a case of bilateral choroidal neovascularization in a patient with beta-thalassemia major and an interventional therapeutic attempt. METHODS Retrospective case report. RESULTS A known case of beta-thalassemia major presented with gradual vision loss. Fundoscopy revealed

Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial.

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Butyrate analogues have been shown to increase fetal hemoglobin (HbF) production in vitro and in vivo. Sodium phenylbutyrate (SPB), an oral agent used to treat individuals with urea-cycle disorders, has been shown to increase HbF in nonanemic individuals and in individuals with sickle cell disease.

Prenatal diagnosis of thalassemias and hemoglobinopathies.

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Thalassemia syndromes and hemoglobinopathies are of clinical genetic significance because of the severity of the sequelae associated with particular genetic constitutions in these conditions, their occurrence at high frequencies in certain populations of Mediterranean, African, and Asian origin, and

Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012.

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OBJECTIVE Alpha thalassemia is one of the most prevalent disorders worldwide and carrier frequency of the disease is varied in different parts of the world. Although different studies in Iran and Mazandaran province have been carried out to identify different mutations of alpha globin gene among

Alpha-thalassemic traits are common in the Taiwanese population: usefulness of a modified hemoglobin H preparation for prevalence studies.

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The aim of this study was to determine the crude prevalence of alpha-thalassemia traits in Taiwan. A total of 1435 healthy employees from a statewide company were randomly screened by complete blood count determination with indices. Subjects with mean corpuscular volume less than 80 fl were analyzed

Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent.

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The goal of thalassemia screening is the identification, prior to the conception or birth of an affected child, of couples where both partners are thalassemia carriers. When both partners are identified as carriers for alpha- or beta-thalassemia, the risk of having a fetus who is homozygous or

[Rapid prenatal diagnosis for thalassemia].

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By means of polymerase chain reaction (PCR), prenatal diagnoses were successfully made in 20 fetuses at risk for beta-thalassemia homozygotes and 2 at risk for Bart's hydrops fetalis. Six pregnancies with homozygotes or double heterozygotes of beta-thalassemia were therapeutically terminated. Ten

A 34-Year-Old Man With Bilateral Paraspinal Masses and Shortness of Breath.

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A 34-year-old man with history of β-thalassemia major and splenectomy presented with a 1-month history of progressively worsening dyspnea, orthopnea, localized chest discomfort, and lower extremity edema. He denied fevers, chills, nasal congestion, and night sweats. He denied tobacco, alcohol, and

Encephaloduroarteriosynangiosis and encephalomyoarteriosynangiosis for treatment of moyamoya syndrome in pediatric patients with sickle cell disease.

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OBJECT Pediatric patients with sickle cell disease (SCD) and moyamoya syndrome (MMS) are at significant risk for cerebrovascular accidents despite chronic transfusion therapy. Encephaloduroarteriosynangiosis (EDAS) and encephalomyoarteriosynangiosis (EMAS) are additional therapeutic options for

Leg ulcers in sickle cell disease.

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Leg ulcers are a frequent complication in patients with sickle cell anemia and S/beta thalassemia causing significant physical disability and negative psychologic and social impact. Systematic conservative approaches to treatment using gentle debridement and control of edema result in rapid healing

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